#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DEGS1	8560	broad.mit.edu	37	1	224377965	224377965	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:224377965G>T	ENST00000323699.4	+	2	935	c.769G>T	c.(769-771)Ggt>Tgt	p.G257C	DEGS1_ENST00000391877.3_Missense_Mutation_p.G257C	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	257					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CTTCAATGTGGGTTATCATAA	0.333																																						ENST00000323699.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(4)	10						c.(769-771)Ggt>Tgt		delta(4)-desaturase, sphingolipid 1							63.0	63.0	63.0					1																	224377965		2203	4300	6503	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224377965G>T	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.769G>T	1.37:g.224377965G>T	ENSP00000316476:p.Gly257Cys					DEGS1_ENST00000391877.3_Missense_Mutation_p.G257C	p.G257C	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	2	935	+	Breast(184;0.193)		257						Missense_Mutation	SNP	ENST00000323699.4	37	c.769G>T	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868985	0.72065	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.21031	2.03;2.03;2.03	5.8	5.8	0.92144	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77970	-0.2387	10	0.87932	D	0	.	20.0522	0.97631	0.0:0.0:1.0:0.0	.	257;236	O15121;E7EMA0	DEGS1_HUMAN;.	C	236;257;257	ENSP00000400545:G236C;ENSP00000316476:G257C;ENSP00000375749:G257C	ENSP00000316476:G257C	G	+	1	0	DEGS1	222444588	1.000000	0.71417	0.994000	0.49952	0.529000	0.34654	9.869000	0.99810	2.747000	0.94245	0.549000	0.68633	GGT		0.333	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			3	34	1	0	0.150653	1	0.150653	3	34				
TRHDE	29953	broad.mit.edu	37	12	72962380	72962380	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr12:72962380T>C	ENST00000261180.4	+	10	2036	c.1940T>C	c.(1939-1941)gTa>gCa	p.V647A	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	647					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTATTGTGGTAGGAAATAGA	0.328																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1939-1941)gTa>gCa		thyrotropin-releasing hormone degrading enzyme							113.0	112.0	113.0					12																	72962380		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72962380T>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1940T>C	12.37:g.72962380T>C	ENSP00000261180:p.Val647Ala					TRHDE_ENST00000549138.1_3'UTR	p.V647A	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			10	2036	+			647					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1940T>C	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068970	0.36470	.	.	ENSG00000072657	ENST00000261180	T	0.28666	1.6	5.24	5.24	0.73138	.	0.439029	0.23840	N	0.044051	T	0.31167	0.0788	L	0.49513	1.565	0.58432	D	0.999992	B	0.20164	0.042	B	0.14023	0.01	T	0.06445	-1.0826	10	0.52906	T	0.07	.	15.1357	0.72562	0.0:0.0:0.0:1.0	.	647	Q9UKU6	TRHDE_HUMAN	A	647	ENSP00000261180:V647A	ENSP00000261180:V647A	V	+	2	0	TRHDE	71248647	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.886000	0.75611	1.964000	0.57103	0.455000	0.32223	GTA		0.328	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		12	21	0	0	0	1	0	12	21				
RNF167	26001	broad.mit.edu	37	17	4844199	4844199	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr17:4844199G>A	ENST00000262482.6	+	0	651				SLC25A11_ENST00000544061.2_5'Flank|RNF167_ENST00000575111.1_De_novo_Start_OutOfFrame|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000572430.1_De_novo_Start_OutOfFrame|RNF167_ENST00000571816.1_De_novo_Start_OutOfFrame|SLC25A11_ENST00000225665.7_5'Flank|RNF167_ENST00000576229.1_Intron	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167						negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						CTTTCCTCCCGCTGCCATGCA	0.672																																						ENST00000262482.6																			0				endometrium(1)|large_intestine(2)|lung(1)	4								ring finger protein 167							33.0	29.0	31.0					17																	4844199		2203	4300	6503			26001				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:4844199G>A	AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"""RING-type (C3HC4) zinc fingers"""	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.-6G>A	17.37:g.4844199G>A						RNF167_ENST00000576229.1_Intron|RNF167_ENST00000575111.1_De_novo_Start_OutOfFrame|RNF167_ENST00000572430.1_De_novo_Start_OutOfFrame|RNF167_ENST00000571816.1_De_novo_Start_OutOfFrame|RNF167_ENST00000570492.1_3'UTR		NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN			0	651	+								D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Translation_Start_Site	SNP	ENST00000262482.6	37		CCDS11060.1																																																																																				0.672	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216854.3	NM_015528		3	35	0	0	0	1	0	3	35				
ARFIP2	23647	broad.mit.edu	37	11	6500429	6500429	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr11:6500429G>A	ENST00000254584.2	-	4	339	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000396777.3_Missense_Mutation_p.R86W|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R48W|ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000525235.1_Missense_Mutation_p.R86W|TIMM10B_ENST00000530751.1_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	86					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAATGCCCCGAGCCACCTCA	0.512																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(256-258)Cgg>Tgg		ADP-ribosylation factor interacting protein 2							84.0	79.0	81.0					11																	6500429		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6500429G>A	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.256C>T	11.37:g.6500429G>A	ENSP00000254584:p.Arg86Trp					ARFIP2_ENST00000423813.2_Missense_Mutation_p.R48W|ARFIP2_ENST00000396777.3_Missense_Mutation_p.R86W|ARFIP2_ENST00000525235.1_Missense_Mutation_p.R86W|ARFIP2_ENST00000445086.2_Intron	p.R86W	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	4	339	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	86					B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.256C>T	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031512	0.75504	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000423813;ENST00000525235	T;T;T	0.78924	-1.19;-1.19;-1.22	5.6	5.6	0.85130	.	0.053180	0.64402	D	0.000001	D	0.83454	0.5258	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.66847	0.947;0.893	D	0.84106	0.0398	10	0.62326	D	0.03	.	12.8904	0.58068	0.0:0.0:0.7206:0.2794	.	119;86	B4DUZ3;P53365	.;ARFP2_HUMAN	W	86;86;48;86	ENSP00000254584:R86W;ENSP00000379998:R86W;ENSP00000398375:R48W	ENSP00000254584:R86W	R	-	1	2	ARFIP2	6457005	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.108000	0.50337	2.659000	0.90383	0.484000	0.47621	CGG		0.512	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		21	25	0	0	0	1	0	21	25				
STT3A	3703	broad.mit.edu	37	11	125472219	125472219	+	Silent	SNP	C	C	G			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr11:125472219C>G	ENST00000529196.1	+	5	377	c.171C>G	c.(169-171)acC>acG	p.T57T	STT3A_ENST00000531491.1_5'UTR|STT3A_ENST00000392708.4_Silent_p.T57T			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	57					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATCGGACTACCAGGTTCCTGG	0.403																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(169-171)acC>acG		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							83.0	85.0	84.0					11																	125472219		2201	4299	6500	SO:0001819	synonymous_variant	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125472219C>G	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.171C>G	11.37:g.125472219C>G						STT3A_ENST00000529196.1_Silent_p.T57T|STT3A_ENST00000531491.1_5'UTR	p.T57T	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	4	330	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	57					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	ENST00000529196.1	37	c.171C>G	CCDS8458.1																																																																																				0.403	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		12	22	0	0	0	1	0	12	22				
GRHL3	57822	broad.mit.edu	37	1	24669233	24669233	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:24669233A>G	ENST00000350501.5	+	10	1383	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R	GRHL3_ENST00000361548.4_Missense_Mutation_p.K419R|GRHL3_ENST00000356046.2_Missense_Mutation_p.K373R|GRHL3_ENST00000236255.4_Missense_Mutation_p.K424R|GRHL3_ENST00000342072.4_Missense_Mutation_p.K326R	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	419					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TTCCGGAGGAAGGTCAAGTGC	0.642																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1255-1257)aAg>aGg		grainyhead-like 3 (Drosophila)							88.0	88.0	88.0					1																	24669233		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24669233A>G	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1256A>G	1.37:g.24669233A>G	ENSP00000288955:p.Lys419Arg					GRHL3_ENST00000356046.2_Missense_Mutation_p.K373R|GRHL3_ENST00000350501.5_Missense_Mutation_p.K419R|GRHL3_ENST00000342072.4_Missense_Mutation_p.K326R|GRHL3_ENST00000236255.4_Missense_Mutation_p.K424R	p.K419R	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	10	1486	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	419					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1256A>G	CCDS252.2	.	.	.	.	.	.	.	.	.	.	A	17.49	3.403075	0.62288	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	4.96	4.96	0.65561	.	0.151805	0.64402	D	0.000019	T	0.13884	0.0336	L	0.33792	1.035	0.80722	D	1	B;B;B	0.28082	0.134;0.2;0.2	B;B;B	0.26416	0.064;0.069;0.069	T	0.08868	-1.0701	10	0.23891	T	0.37	-34.9359	13.9772	0.64279	1.0:0.0:0.0:0.0	.	373;424;419	A2A297;Q8TE85-2;G3XAF0	.;.;.	R	419;326;419;373;424	ENSP00000354943:K419R;ENSP00000340543:K326R;ENSP00000288955:K419R;ENSP00000348333:K373R;ENSP00000236255:K424R	ENSP00000236255:K424R	K	+	2	0	GRHL3	24541820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.549000	0.60726	2.090000	0.63153	0.533000	0.62120	AAG		0.642	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		25	59	0	0	0	1	0	25	59				
FLG	2312	broad.mit.edu	37	1	152284626	152284626	+	Silent	SNP	A	A	T			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:152284626A>T	ENST00000368799.1	-	3	2771	c.2736T>A	c.(2734-2736)cgT>cgA	p.R912R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	912	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCATGGTGACGTGACCCTG	0.572									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2734-2736)cgT>cgA		filaggrin							381.0	360.0	367.0					1																	152284626		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284626A>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2736T>A	1.37:g.152284626A>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R912R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2771	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		912			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.2736T>A	CCDS30860.1																																																																																				0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		12	362	0	0	0	1	0	12	362				
PGBD5	79605	broad.mit.edu	37	1	230492720	230492720	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:230492720G>C	ENST00000525115.1	-	2	495	c.472C>G	c.(472-474)Cac>Gac	p.H158D	PGBD5_ENST00000391860.1_Missense_Mutation_p.H112D|PGBD5_ENST00000321327.2_Missense_Mutation_p.H257D			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	158						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TAGAGCCCGTGCGTGGTCTGG	0.627																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(769-771)Cac>Gac		piggyBac transposable element derived 5							81.0	74.0	76.0					1																	230492720		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230492720G>C	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.472C>G	1.37:g.230492720G>C	ENSP00000431404:p.His158Asp					PGBD5_ENST00000391860.1_Missense_Mutation_p.H112D|PGBD5_ENST00000525115.1_Missense_Mutation_p.H158D	p.H257D			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	4	768	-	Breast(184;0.0397)	Prostate(94;0.167)	158					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.769C>G		.	.	.	.	.	.	.	.	.	.	G	12.92	2.081443	0.36758	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.10668	2.85;2.85;2.85	6.03	6.03	0.97812	.	0.047074	0.85682	D	0.000000	T	0.05686	0.0149	N	0.03608	-0.345	0.54753	D	0.999989	B	0.32010	0.351	B	0.31946	0.138	T	0.23904	-1.0175	10	0.02654	T	1	-28.5082	20.5568	0.99304	0.0:0.0:1.0:0.0	.	158	Q8N414	PGBD5_HUMAN	D	112;257;158	ENSP00000375733:H112D;ENSP00000322530:H257D;ENSP00000431404:H158D	ENSP00000322530:H257D	H	-	1	0	PGBD5	228559343	1.000000	0.71417	0.723000	0.30687	0.732000	0.41865	9.848000	0.99507	2.861000	0.98227	0.655000	0.94253	CAC		0.627	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		15	24	0	0	0	1	0	15	24				
PRLR	5618	broad.mit.edu	37	5	35065551	35065551	+	Silent	SNP	G	G	A	rs368647716		TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr5:35065551G>A	ENST00000382002.5	-	10	1935	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Silent_p.S402S|PRLR_ENST00000342362.5_Silent_p.S402S|PRLR_ENST00000509934.1_5'Flank	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	503					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.S503S(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	AGGGTTTAGCGGAGCCAAAGG	0.517																																						ENST00000382002.5																			1	Substitution - coding silent(1)	p.S503S(1)	upper_aerodigestive_tract(1)	central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1507-1509)tcC>tcT		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	G	,,,,,	0,4406		0,0,2203	87.0	94.0	92.0		1509,1206,,,,	3.4	0.0	5		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,intron,intron,intron	PRLR	NM_000949.5,NM_001204314.1,NM_001204315.1,NM_001204316.1,NM_001204317.1,NM_001204318.1	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	503/623,402/522,,,,	35065551	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065551G>A		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1509C>T	5.37:g.35065551G>A						PRLR_ENST00000342362.5_Silent_p.S402S|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.S402S|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000231423.3_Intron	p.S503S	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1935	-	all_lung(31;3.83e-05)		503					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	37	c.1509C>T	CCDS3909.1																																																																																				0.517	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			4	68	0	0	0	1	0	4	68				
ZNF343	79175	broad.mit.edu	37	20	2473468	2473468	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr20:2473468G>A	ENST00000278772.4	-	5	668	c.181C>T	c.(181-183)Cca>Tca	p.P61S	ZNF343_ENST00000358413.2_Missense_Mutation_p.P61S|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.P61S|ZNF343_ENST00000381253.1_Missense_Mutation_p.P61S	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AATGTAACTGGTACCTACAAA	0.458																																						ENST00000278772.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(181-183)Cca>Tca		zinc finger protein 343							156.0	146.0	149.0					20																	2473468		2203	4300	6503	SO:0001583	missense	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2473468G>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.181C>T	20.37:g.2473468G>A	ENSP00000278772:p.Pro61Ser					ZNF343_ENST00000381253.1_Missense_Mutation_p.P61S|ZNF343_ENST00000358413.2_Missense_Mutation_p.P61S|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.P61S	p.P61S	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			5	668	-			61					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	c.181C>T	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350227	0.41599	.	.	ENSG00000088876	ENST00000278772;ENST00000445484;ENST00000381253;ENST00000358413;ENST00000421216	T;T;T;T;T	0.00760	5.73;5.73;5.73;5.73;5.73	3.96	-0.654	0.11443	Krueppel-associated box (1);	.	.	.	.	T	0.00412	0.0013	N	0.08118	0	0.09310	N	1	B	0.29862	0.259	B	0.26614	0.071	T	0.40421	-0.9564	9	0.02654	T	1	.	4.3472	0.11138	0.3297:0.1698:0.5005:0.0	.	61	Q6P1L6	ZN343_HUMAN	S	61	ENSP00000278772:P61S;ENSP00000399682:P61S;ENSP00000370652:P61S;ENSP00000351188:P61S;ENSP00000416488:P61S	ENSP00000443337:P61S	P	-	1	0	ZNF343	2421468	0.000000	0.05858	0.000000	0.03702	0.871000	0.50021	-0.208000	0.09371	-0.181000	0.10619	0.585000	0.79938	CCA		0.458	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		33	41	0	0	0	1	0	33	41				
RC3H1	149041	broad.mit.edu	37	1	173934007	173934007	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:173934007C>T	ENST00000367696.2	-	10	1937	c.1586G>A	c.(1585-1587)aGc>aAc	p.S529N	RC3H1_ENST00000367694.2_Missense_Mutation_p.S529N|RC3H1_ENST00000258349.4_Missense_Mutation_p.S529N			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	529					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGCACTACTGCTCAGATGATC	0.398																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(1585-1587)aGc>aAc		ring finger and CCCH-type domains 1							123.0	114.0	117.0					1																	173934007		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173934007C>T	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1586G>A	1.37:g.173934007C>T	ENSP00000356669:p.Ser529Asn					RC3H1_ENST00000258349.4_Missense_Mutation_p.S529N|RC3H1_ENST00000367694.2_Missense_Mutation_p.S529N	p.S529N			Q5TC82	RC3H1_HUMAN			10	1937	-			529					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.1586G>A	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055431	0.93793	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.50813	0.78;0.78;0.73	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.67145	0.993;0.993;0.996;0.993	D;D;D;D	0.75484	0.968;0.968;0.986;0.968	T	0.64045	-0.6499	10	0.49607	T	0.09	-11.0912	20.0435	0.97601	0.0:1.0:0.0:0.0	.	529;529;529;529	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	N	529	ENSP00000356669:S529N;ENSP00000258349:S529N;ENSP00000356667:S529N	ENSP00000258349:S529N	S	-	2	0	RC3H1	172200630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.940000	0.75917	2.731000	0.93534	0.650000	0.86243	AGC		0.398	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		26	39	0	0	0	1	0	26	39				
SERPINB8	5271	broad.mit.edu	37	18	61645663	61645663	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr18:61645663A>G	ENST00000397985.2	+	2	377	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000542677.1_Intron|SERPINB8_ENST00000397988.3_Missense_Mutation_p.M41V|SERPINB8_ENST00000353706.2_Missense_Mutation_p.M41V	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	41					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TGCCCTGGCCATGGTCTTCAT	0.488																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(121-123)Atg>Gtg		serpin peptidase inhibitor, clade B (ovalbumin), member 8							100.0	88.0	92.0					18																	61645663		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61645663A>G	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.121A>G	18.37:g.61645663A>G	ENSP00000381072:p.Met41Val					HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000542677.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.M41V|SERPINB8_ENST00000397988.3_Missense_Mutation_p.M41V	p.M41V	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			2	377	+		Esophageal squamous(42;0.129)	41					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.121A>G	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374128	0.61735	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000448851;ENST00000441827	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.14	5.14	0.70334	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	M	0.91872	3.25	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.72338	0.977;0.977	D	0.93795	0.7096	10	0.87932	D	0	.	10.4639	0.44596	0.8371:0.1629:0.0:0.0	.	41;41	P50452;Q8N178	SPB8_HUMAN;.	V	41	ENSP00000381072:M41V;ENSP00000331368:M41V;ENSP00000381075:M41V;ENSP00000414580:M41V;ENSP00000393456:M41V	ENSP00000331368:M41V	M	+	1	0	SERPINB8	59796643	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	4.588000	0.60999	2.164000	0.68074	0.533000	0.62120	ATG		0.488	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		4	46	0	0	0	1	0	4	46				
COL6A6	131873	broad.mit.edu	37	3	130282174	130282174	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr3:130282174G>T	ENST00000358511.6	+	2	358	c.327G>T	c.(325-327)aaG>aaT	p.K109N	COL6A6_ENST00000453409.2_Missense_Mutation_p.K109N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	109	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGATAGGAAAGGCTCTTCAGG	0.507																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(325-327)aaG>aaT		collagen, type VI, alpha 6							38.0	37.0	38.0					3																	130282174		1856	4084	5940	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130282174G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.327G>T	3.37:g.130282174G>T	ENSP00000351310:p.Lys109Asn					COL6A6_ENST00000453409.2_Missense_Mutation_p.K109N	p.K109N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			2	358	+			109			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.327G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	0.777	-0.763834	0.02996	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84370	-1.84;-1.84	5.21	-10.4	0.00318	von Willebrand factor, type A (3);	1.100950	0.06830	N	0.793704	T	0.60064	0.2240	N	0.10874	0.06	0.20489	N	0.999892	B	0.02656	0.0	B	0.04013	0.001	T	0.49163	-0.8968	10	0.12103	T	0.63	.	4.0301	0.09705	0.1559:0.0905:0.2435:0.5101	.	109	A6NMZ7	CO6A6_HUMAN	N	109	ENSP00000351310:K109N;ENSP00000399236:K109N	ENSP00000351310:K109N	K	+	3	2	COL6A6	131764864	0.000000	0.05858	0.000000	0.03702	0.334000	0.28698	-1.635000	0.02018	-2.338000	0.00627	-1.083000	0.02208	AAG		0.507	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		8	14	1	0	1.12685e-05	1	1.22484e-05	8	14				
ABCA4	24	broad.mit.edu	37	1	94466628	94466628	+	Missense_Mutation	SNP	G	G	A	rs61750648		TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:94466628G>A	ENST00000370225.3	-	46	6402	c.6316C>T	c.(6316-6318)Cgc>Tgc	p.R2106C	ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000535881.1_Missense_Mutation_p.R225C|ABCA4_ENST00000536513.1_Missense_Mutation_p.R376C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2106	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> C (in STGD1 and FFM; reduced ATP- binding capacity). {ECO:0000269|PubMed:11379881}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGCATGCGGCGTGCCTGGGGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		18899	0.0		0.0	False		,,,				2504	0.001					ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147	GRCh37	CM970022	ABCA4	M	rs61750648	c.(6316-6318)Cgc>Tgc		ATP-binding cassette, sub-family A (ABC1), member 4		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	84.0	77.0	80.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	6316	5.1	1.0	1	dbSNP_129	80	0,8600		0,0,4300	no	missense	ABCA4	NM_000350.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	2106/2274	94466628	2,13004	2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94466628G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6316C>T	1.37:g.94466628G>A	ENSP00000359245:p.Arg2106Cys					ABCA4_ENST00000535881.1_Missense_Mutation_p.R225C|ABCA4_ENST00000536513.1_Missense_Mutation_p.R376C	p.R2106C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	46	6402	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2106		R -> C (in STGD1 and FFM; reduced ATP- binding capacity).	ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6316C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369596	0.82463	4.54E-4	0.0	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.97378	-4.36;-4.36;-4.36	6.08	5.14	0.70334	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.053526	0.85682	D	0.000000	D	0.98858	0.9614	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99301	1.0901	10	0.87932	D	0	.	16.8632	0.86023	0.0:0.0:0.8712:0.1288	rs61750648	2106	P78363	ABCA4_HUMAN	C	898;2106;376;225	ENSP00000359245:R2106C;ENSP00000439707:R376C;ENSP00000443203:R225C	ENSP00000359245:R2106C	R	-	1	0	ABCA4	94239216	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.866000	0.48420	2.894000	0.99253	0.655000	0.94253	CGC		0.627	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		4	43	0	0	0	1	0	4	43				
CPT1A	1374	broad.mit.edu	37	11	68542856	68542856	+	Missense_Mutation	SNP	A	A	C			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr11:68542856A>C	ENST00000265641.5	-	13	1657	c.1503T>G	c.(1501-1503)gaT>gaG	p.D501E	CPT1A_ENST00000537756.2_5'Flank|CPT1A_ENST00000376618.2_Missense_Mutation_p.D501E|CPT1A_ENST00000539743.1_Missense_Mutation_p.D501E|CPT1A_ENST00000540367.1_Missense_Mutation_p.D501E	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	501					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TGCAGTGCCCATCCTCCGCAT	0.463																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1501-1503)gaT>gaG		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						153.0	134.0	141.0					11																	68542856		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68542856A>C	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1503T>G	11.37:g.68542856A>C	ENSP00000265641:p.Asp501Glu					CPT1A_ENST00000376618.2_Missense_Mutation_p.D501E|CPT1A_ENST00000540367.1_Missense_Mutation_p.D501E|CPT1A_ENST00000539743.1_Missense_Mutation_p.D501E	p.D501E	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		13	1657	-	Esophageal squamous(3;3.28e-14)		501					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.1503T>G	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	A	9.133	1.011830	0.19277	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.12	-6.81	0.01704	.	0.158415	0.53938	D	0.000041	T	0.76709	0.4025	N	0.17564	0.495	0.26746	N	0.970304	B;B	0.19073	0.018;0.033	B;B	0.25405	0.06;0.036	T	0.54801	-0.8239	10	0.18710	T	0.47	.	16.8677	0.86033	0.2439:0.0:0.7561:0.0	.	501;501	P50416;P50416-2	CPT1A_HUMAN;.	E	501	ENSP00000439084:D501E;ENSP00000365803:D501E;ENSP00000265641:D501E;ENSP00000446108:D501E	ENSP00000265641:D501E	D	-	3	2	CPT1A	68299432	0.000000	0.05858	0.466000	0.27168	0.408000	0.30992	-3.456000	0.00464	-1.298000	0.02348	0.391000	0.25812	GAT		0.463	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		27	36	0	0	0	1	0	27	36				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	24	0	0	0	1	0	22	24				
MYO18B	84700	broad.mit.edu	37	22	26422689	26422689	+	Missense_Mutation	SNP	T	T	A			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr22:26422689T>A	ENST00000407587.2	+	43	6921	c.6752T>A	c.(6751-6753)cTc>cAc	p.L2251H	MYO18B_ENST00000536101.1_Missense_Mutation_p.L2250H|MYO18B_ENST00000335473.7_Missense_Mutation_p.L2250H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2250						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCAGCGGCCCTCTCGGAGTTC	0.607																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(6748-6750)cTc>cAc		myosin XVIIIB							21.0	22.0	22.0					22																	26422689		1886	4092	5978	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422689T>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6752T>A	22.37:g.26422689T>A	ENSP00000386096:p.Leu2251His					MYO18B_ENST00000536101.1_Missense_Mutation_p.L2250H|MYO18B_ENST00000407587.2_Missense_Mutation_p.L2251H	p.L2250H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	6999	+			2250					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6749T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.2|22.2	4.251625|4.251625	0.80135|0.80135	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.95588|.	-3.72;-3.72;-3.75|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.000000|.	0.44902|.	D|.	0.000412|.	T|T	0.70859|0.70859	0.3272|0.3272	M|M	0.66939|0.66939	2.045|2.045	0.42118|0.42118	D|D	0.991415|0.991415	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.998;0.998;0.999;0.999|.	T|T	0.71533|0.71533	-0.4564|-0.4564	10|5	0.87932|.	D|.	0|.	.|.	13.4051|13.4051	0.60908|0.60908	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1763;2252;2250;2251;2250|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	H|T	2250;2250;2251|200	ENSP00000441229:L2250H;ENSP00000334563:L2250H;ENSP00000386096:L2251H|.	ENSP00000334563:L2250H|.	L|S	+|+	2|1	0|0	MYO18B|MYO18B	24752689|24752689	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.976000|0.976000	0.68499|0.68499	5.473000|5.473000	0.66774|0.66774	1.862000|1.862000	0.54008|0.54008	0.402000|0.402000	0.26972|0.26972	CTC|TCT		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		11	12	0	0	0	1	0	11	12				
QTRTD1	79691	broad.mit.edu	37	3	113804620	113804620	+	Silent	SNP	C	C	T			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr3:113804620C>T	ENST00000493014.1	+	6	867	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	QTRTD1_ENST00000479882.1_Silent_p.L250L|QTRTD1_ENST00000485050.1_Silent_p.L385L|QTRTD1_ENST00000281273.4_Silent_p.L373L	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GACCAATGAGCTGCTGGCCGG	0.483																																						ENST00000281273.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						c.(1117-1119)Ctg>Ttg		queuine tRNA-ribosyltransferase domain containing 1							204.0	172.0	183.0					3																	113804620		2203	4300	6503	SO:0001819	synonymous_variant	79691				queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr3:113804620C>T	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.799C>T	3.37:g.113804620C>T						QTRTD1_ENST00000479882.1_Silent_p.L250L|QTRTD1_ENST00000485050.1_Silent_p.L385L|QTRTD1_ENST00000493014.1_Silent_p.L267L	p.L373L	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN			10	1374	+			373						Silent	SNP	ENST00000493014.1	37	c.1117C>T	CCDS58845.1																																																																																				0.483	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		5	82	0	0	0	1	0	5	82				
CENPT	80152	broad.mit.edu	37	16	67862435	67862435	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr16:67862435C>A	ENST00000562787.1	-	15	2052	c.1504G>T	c.(1504-1506)Gct>Tct	p.A502S	CENPT_ENST00000219172.3_Missense_Mutation_p.A502S|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000440851.2_Missense_Mutation_p.A502S|CENPT_ENST00000564817.1_Missense_Mutation_p.A447S	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	502					chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCATGAGCAGCAAATACCTCC	0.552																																						ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(1504-1506)Gct>Tct		centromere protein T							126.0	134.0	131.0					16																	67862435		2042	4196	6238	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67862435C>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1504G>T	16.37:g.67862435C>A	ENSP00000457810:p.Ala502Ser					CENPT_ENST00000440851.2_Missense_Mutation_p.A502S|CENPT_ENST00000219172.3_Missense_Mutation_p.A502S|CENPT_ENST00000564817.1_Missense_Mutation_p.A447S	p.A502S	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	15	2052	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	502					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.1504G>T	CCDS42182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.080860|4.080860	0.76528|0.76528	.|.	.|.	ENSG00000102901|ENSG00000102901	ENST00000440851;ENST00000219172|ENST00000436104	T;T|.	0.60424|.	0.19;0.19|.	5.67|5.67	4.71|4.71	0.59529|0.59529	Histone-fold (2);|.	0.213000|.	0.38548|.	N|.	0.001651|.	T|T	0.70570|0.70570	0.3239|0.3239	M|M	0.62016|0.62016	1.91|1.91	0.80722|0.80722	D|D	1|1	P;D|D	0.69078|0.89917	0.67;0.997|1.0	B;P|D	0.62740|0.72625	0.413;0.906|0.978	T|T	0.72513|0.72513	-0.4270|-0.4270	10|8	0.38643|0.87932	T|D	0.18|0	-8.4161|-8.4161	11.1798|11.1798	0.48620|0.48620	0.0:0.9146:0.0:0.0854|0.0:0.9146:0.0:0.0854	.|.	502;502|253	Q96BT3;B3KPB2|F5H5A6	CENPT_HUMAN;.|.	S|F	502|253	ENSP00000400140:A502S;ENSP00000219172:A502S|.	ENSP00000219172:A502S|ENSP00000404857:L253F	A|L	-|-	1|3	0|2	CENPT|CENPT	66419936|66419936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.817000|0.817000	0.46193|0.46193	0.786000|0.786000	0.26844|0.26844	2.666000|2.666000	0.90696|0.90696	0.561000|0.561000	0.74099|0.74099	GCT|TTG		0.552	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		6	144	1	0	2.7689e-08	1	3.14647e-08	6	144				
PDZD2	23037	broad.mit.edu	37	5	32074632	32074635	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr5:32074632_32074635delACAG	ENST00000438447.1	+	18	3808_3811	c.3420_3423delACAG	c.(3418-3423)tcacagfs	p.SQ1140fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.SQ1140fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1140					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCAGTGGCTCACAGACAGTGAACC	0.593																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(3418-3423)tcfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074632_32074635delACAG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3420_3423delACAG	5.37:g.32074636_32074639delACAG	ENSP00000402033:p.Ser1140fs					PDZD2_ENST00000282493.3_Frame_Shift_Del_p.SQ1140fs	p.SQ1140fs			O15018	PDZD2_HUMAN			18	3808_3811	+			1140					Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	c.3420_3423delACAG	CCDS34137.1																																																																																				0.593	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			13	23						13	23	---	---	---	---
ZNF192P1	651302	broad.mit.edu	37	6	28134764	28134764	+	RNA	DEL	T	T	-			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr6:28134764delT	ENST00000440790.2	+	0	867					NR_103448.1				zinc finger protein 192 pseudogene 1																		AGCTCAGACCTTATCAAACAT	0.428																																						ENST00000440790.2																			0																				112.0	109.0	110.0					6																	28134764		692	1591	2283			0							g.chr6:28134764delT			6p22.1	2012-10-05	2011-08-31	2011-08-31	ENSG00000226314	ENSG00000226314			18777	pseudogene	pseudogene	"""zinc finger protein 389, pseudogene"""		"""zinc finger protein 389"""	ZNF389			Standard	NR_103448		Approved	dJ265C24.4, ZNF389P	uc021yrq.2		OTTHUMG00000014513		6.37:g.28134764delT								NR_103448.1						0	867	+									RNA	DEL	ENST00000440790.2	37																																																																																						0.428	ZNF192P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040181.1			2	4						2	4	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651200	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCC	rs71025763|rs144216147	byFrequency	TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr11:1651199_1651200insGGCTGTGGCTCC	ENST00000399676.2	+	1	167_168	c.129_130insGGCTGTGGCTCC	c.(130-132)ggc>GGCTGTGGCTCCggc	p.44_44G>GCGSG		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtggggg	0.713																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(127-132)gggctg>ggGGCTGTGGCTCCgctg		keratin associated protein 5-5																																				SO:0001652	inframe_insertion	439915					keratin filament		g.chr11:1651199_1651200insGGCTGTGGCTCC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	Exception_encountered	11.37:g.1651199_1651200insGGCTGTGGCTCC	Exception_encountered						p.43_44GL>GAVAPL	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	167_168	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43	G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	In_Frame_Ins	INS	ENST00000399676.2	37	c.129_130insGGCTGTGGCTCC	CCDS41592.1																																																																																				0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			28	24						28	24	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del						p.YGSGGSSY552del	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		8	2						8	2	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547135	132547136	+	In_Frame_Ins	INS	-	-	CAG			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr12:132547135_132547136insCAG	ENST00000333577.4	+	48	8440_8441	c.8331_8332insCAG	c.(8332-8334)caa>CAGcaa	p.2778_2778Q>QQ	EP400_ENST00000389562.2_In_Frame_Ins_p.2741_2741Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2705_2705Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2661_2661Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2742_2742Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacagcagca	0.589																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8329-8334)caaaca>caCAGaaca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547135_132547136insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547133_132547135dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR	p.2777_2777Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8440_8441	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2777			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8331_8332insCAG																																																																																					0.589	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		14	34						14	34	---	---	---	---
KLF2	10365	broad.mit.edu	37	19	16436140	16436142	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr19:16436140_16436142delGCC	ENST00000248071.5	+	2	296_298	c.189_191delGCC	c.(187-192)gagccg>gag	p.P71del	KLF2_ENST00000592003.1_Intron|CTD-2562J15.6_ENST00000588799.1_RNA	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	71	Poly-Pro.				cell morphogenesis (GO:0000902)|cellular response to cycloheximide (GO:0071409)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|cellular response to tumor necrosis factor (GO:0071356)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						CCGCCCCGGAgccgccgccgccg	0.749																																						ENST00000248071.5																			0				haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						c.(187-192)gag>ga		Kruppel-like factor 2				7,569		3,1,284						1.3	0.0			2	24,1840		6,12,914	no	coding	KLF2	NM_016270.2		9,13,1198	A1A1,A1R,RR		1.2876,1.2153,1.2705				31,2409				SO:0001651	inframe_deletion	10365				positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:16436140_16436142delGCC	AF123344	CCDS12343.1	19p13.11	2013-10-15	2013-10-15		ENSG00000127528	ENSG00000127528		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6347	protein-coding gene	gene with protein product		602016	"""Kruppel-like factor 2 (lung)"""			10217429, 10458913	Standard	NM_016270		Approved	LKLF	uc002ndw.3	Q9Y5W3	OTTHUMG00000182330	ENST00000248071.5:c.189_191delGCC	19.37:g.16436149_16436151delGCC	ENSP00000248071:p.Pro71del					KLF2_ENST00000592003.1_Intron	p.EP63del	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN			2	296_298	+			63			Poly-Pro.		Q6IPC4|Q9UJS5|Q9UKR6	In_Frame_Del	DEL	ENST00000248071.5	37	c.189_191delGCC	CCDS12343.1																																																																																				0.749	KLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460562.1			2	4						2	4	---	---	---	---
